| Literature DB >> 27920636 |
Gabrielle S Vianna1, Mariana L Freitas1, Valdirene T de Oliveira1, Rafaella X Pietra1, Michele da S Gonçalves2, Patrícia P O Rocha1, Rejane A C Monteiro1, Luana C A Ferreira1, Rosana R Xavier3, Andréia M Carvalho3, Patrícia R de M Lima3, Maria Augusta N P Monteiro3, Elvis C Mateo2, Juliana G Giannetti4, Giovana da C César5, Joziele de S Lima6, Paula F V Medeiros7, Fernanda S Jehee1.
Abstract
Chromosomal changes are frequently observed in patients with syndromic seizures. Understanding the genetic etiology of this pathology is crucial for the guidance and genetic counseling of families as well as for the establishment of appropriate treatment. A combination of MLPA kits was used to identify pathogenic CNVs in a group of 70 syndromic patients with seizures. Initially, a screening was performed for subtelomeric changes (MLPA P036 and P070 kits) and for the regions most frequently related to microdeletion/microduplication syndromes (MLPA P064). Subsequently, the MLPA P343 was used to identify alterations in the 15q11q13, 16p11.2, and 22q13 regions. Screening with MLPA P343 allowed a 10-15.7% increase in the detection rate of CNVs reinforcing the importance of investigating changes in 15q11q13 and 16p11.2 in syndromic patients with seizures. We also demonstrated that the MLPA technique is an alternative with a great diagnostic potential, and we proposed its use as part of the initial assessment of syndromic patients with seizures.Entities:
Keywords: Congenital malformations; Developmental delay; Intellectual disability; MLPA; Seizures; Submicroscopic chromosomal changes
Year: 2016 PMID： 27920636 PMCID： PMC5131333 DOI： 10.1159/000450631
Source DB: PubMed Journal: Mol Syndromol ISSN： 1661-8769